These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: Facioscapulohumeral dystrophy associated with sensorineural hearing loss, tortuosity of retinal arterioles, and an early onset and rapid progression of respiratory failure.
    Author: Yasukohchi S, Yagi Y, Akabane T, Terauchi A, Tamagawa K, Mizuno Y.
    Journal: Brain Dev; 1988; 10(5):319-24. PubMed ID: 3239698.
    Abstract:
    Two sibling cases of facioscapulohumeral dystrophy (FSHD) are described. One was characterized by sensorineural hearing loss, marked tortuosity of retinal arterioles, an early onset and progression of severe restrictive-type pulmonary dysfunction, and cor pulmonale. The other had a mild course of FSHD without involvement of any other organ than muscles at the time of diagnosis. Recently, a new nosological entity of FSHD, with sensorineural hearing loss and tortuosity of retinal arterioles, was advocated. Our cases, especially the first case, seem to belong to this newly recognized entity of FSHD. Moreover, it is noteworthy that our first case exhibited rapid aggravation of severe restrictive-type respiratory failure and cor pulmonale, leading to death, which was never seen in any other reported cases.
    [Abstract] [Full Text] [Related] [New Search]